Learn About 5-Alpha Reductase Deficiency

What is the definition of 5-Alpha Reductase Deficiency?

5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.

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What are the causes of 5-Alpha Reductase Deficiency?

Mutations in the SRD5A2 gene cause 5-alpha reductase deficiency. The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. This enzyme is involved in processing androgens, which are hormones that direct male sexual development. Specifically, the enzyme is responsible for a chemical reaction that converts the hormone testosterone to DHT. DHT is essential for the normal development of male sex characteristics before birth, particularly the formation of the external genitalia.

How prevalent is 5-Alpha Reductase Deficiency?

5-alpha reductase deficiency is a rare condition; the exact incidence is unknown. Large families with affected members have been found in several countries, including the Dominican Republic, Papua New Guinea, Turkey, and Egypt.

Is 5-Alpha Reductase Deficiency an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the SRD5A2 gene in each cell have a mutation. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.

Who are the top 5-Alpha Reductase Deficiency Local Doctors?
Elite
Highly rated in
6
conditions

Shahid Sadeghi Blv

Evolution And Human Behaviour Group, Psychiatry And Behavioral Sciences Research Centre, Mashhad University Of Medical Sciences, No. 17, Toufigh 9 Lane, 91858-84714 
Mashhad, IR 

Behzad Khorashad is in Mashhad, Islamic Republic of Iran. Khorashad is rated as an Elite expert by MediFind in the treatment of 5-Alpha Reductase Deficiency. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are 5-Alpha Reductase Deficiency, Partial Androgen Insensitivity Syndrome, Swyer Syndrome, and Congenital Adrenal Hyperplasia.

Distinguished
Highly rated in
6
conditions

Pediatric Surgery

Department Of Pediatric Surgery 
Mashhad, IR 

Mehran Hiradfar is in Mashhad, Islamic Republic of Iran. Hiradfar is rated as a Distinguished expert by MediFind in the treatment of 5-Alpha Reductase Deficiency. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are 5-Alpha Reductase Deficiency, Partial Androgen Insensitivity Syndrome, Swyer Syndrome, and Hypospadias.

 
 
 
 
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Distinguished
Highly rated in
3
conditions

Ghaem Hospital, Mashhad University Of Medical Sciences

Mashhad, IR 

Mozhgan Afkhamizadeh is in Mashhad, Islamic Republic of Iran. Afkhamizadeh is rated as a Distinguished expert by MediFind in the treatment of 5-Alpha Reductase Deficiency. They are also highly rated in 3 other conditions, according to our data. Their top areas of expertise are 5-Alpha Reductase Deficiency, Partial Androgen Insensitivity Syndrome, Swyer Syndrome, and Hypospadias.

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Who are the sources who wrote this article ?

Published Date:updated Last, April

Published By: National Institutes of Health

What are the Latest Advances for 5-Alpha Reductase Deficiency?

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